Episodic ataxia, type 2

Preferred Label : Episodic ataxia, type 2;

Symbol : EA2;

CISMeF acronym : APCA; CAPA; EA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ataxia, familial paroxysmal; Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia; Cerebellar ataxia, paroxysmal, acetazolamide-responsive; Cerebellopathy, hereditary paroxysmal; Episodic ataxia, nystagmus-associated; Ataxia, episodic, with nystagmus; CAPA; APCA;

Description : Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, P/Q type, alpha 1A subunit gene (CACNA1A, 601011.0005);

Prefixed ID : #108500;

Details

Origin ID

108500;

UMLS CUI

C1720416;

Automatic exact mappings (from CISMeF team)
- Postinfectious cerebellitis [ORDO Disease]
Currated CISMeF NLP mapping
- Episodic Ataxia, Type 2 [MeSH concept]
- Episodic Ataxia, Type 2 [MeSH Supplementary Concept]
- Episodic ataxia type 2 (disorder) [SNOMED CT concept]
- Episodic ataxia type 2 - CACNA1A mutation [ICD-11 More detail]
- Familial paroxysmal ataxia [ORDO Disease]
- episodic ataxia type 2 [DO Concept]
- episodic ataxia type 2 [Disease (Nov.)]
DO Cross reference
- episodic ataxia type 2 [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, p/q type, alpha-1a subunit [OMIM gene]
HPO term(s)
- Atrophy of cerebellar vermis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Cerebrovascular accident [HPO term]
- Diplopia [HPO term]
- Downbeat nystagmus [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Episodic ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Incomplete penetrance [HPO term]
- Interictal vestibular dysfunction [HPO term]
- Migraine [HPO term]
- Muscle weakness [HPO term]
- Myotonia [HPO term]
- Paresthesia [HPO term]
- Progressive ataxia [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Saccadic smooth pursuit [HPO term]
- Tinnitus [HPO term]
- Vertigo [HPO term]
- Vestibular dysfunction [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Familial paroxysmal ataxia [ORDO Disease]
See also inter- (CISMeF)
- calcium voltage-gated channel subunit alpha1 A [ORDO Gene]
- calcium voltage-gated channel subunit alpha1 A [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic Ataxia Type 2 [NCIt concept]
- Episodic Ataxia, Type 2 [MeSH Supplementary Concept]
- Episodic Ataxia, Type 2 [MeSH concept]
- Episodic ataxia type 2 (disorder) [SNOMED CT concept]
- Episodic ataxia type 2 - CACNA1A mutation [ICD-11 More detail]
- Familial paroxysmal ataxia [ORDO Disease]
- episodic ataxia type 2 [DO Concept]
- episodic ataxia type 2 [Disease (Nov.)]

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